Mutagenetix > Incidental Mutation

Incidental Mutation 'R8525:2310022A10Rik'

658765

Institutional Source

Beutler Lab

Gene Symbol

2310022A10Rik

Ensembl Gene

ENSMUSG00000049643

Gene Name

RIKEN cDNA 2310022A10 gene

Synonyms

MMRRC Submission

067950-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R8525 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27252658-27281524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27255936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 8 (N8Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067386] [ENSMUST00000117095] [ENSMUST00000117611] [ENSMUST00000127240] [ENSMUST00000131106] [ENSMUST00000187032] [ENSMUST00000187960] [ENSMUST00000191126]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067386
AA Change: N8Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000066803
Gene: ENSMUSG00000049643
AA Change: N8Y

Domain	Start	End	E-Value	Type
Blast:SAM	34	100	5e-20	BLAST
SCOP:d1b4fa_	54	100	7e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117095

SMART Domains

Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
PLDc	194	221	9.25e-10	SMART
Pfam:PLDc_3	224	401	1.6e-43	PFAM
PLDc	409	435	1.19e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117611

SMART Domains

Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
PLDc	194	221	9.25e-10	SMART
low complexity region	285	297	N/A	INTRINSIC
PLDc	409	435	1.19e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127240

SMART Domains

Protein: ENSMUSP00000115891
Gene: ENSMUSG00000003363

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131106

Predicted Effect

probably benign
Transcript: ENSMUST00000187032

SMART Domains

Protein: ENSMUSP00000139423
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	28	92	4e-20	BLAST
SCOP:d1b4fa_	48	94	6e-5	SMART
low complexity region	158	170	N/A	INTRINSIC
low complexity region	262	271	N/A	INTRINSIC
low complexity region	294	319	N/A	INTRINSIC
low complexity region	378	386	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187960
AA Change: N8Y

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140651
Gene: ENSMUSG00000049643
AA Change: N8Y

Domain	Start	End	E-Value	Type
Blast:SAM	34	98	4e-20	BLAST
SCOP:d1b4fa_	54	100	6e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC
low complexity region	384	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191126

SMART Domains

Protein: ENSMUSP00000139696
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	8	74	1e-22	BLAST
SCOP:d1b4fa_	28	74	4e-5	SMART
low complexity region	138	150	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,559,378 (GRCm39)	D197V	possibly damaging	Het
Aar2	G	A	2: 156,397,837 (GRCm39)	R283Q	probably benign	Het
Acsf2	T	A	11: 94,463,446 (GRCm39)	I119F	probably benign	Het
Adamtsl1	C	T	4: 86,195,247 (GRCm39)	P572S	probably damaging	Het
Adh5	A	T	3: 138,157,095 (GRCm39)	I219F	probably damaging	Het
Arhgap23	T	A	11: 97,380,910 (GRCm39)	F1098I	probably damaging	Het
Bicc1	G	T	10: 70,779,365 (GRCm39)	H674Q	possibly damaging	Het
Ccdc39	C	T	3: 33,868,853 (GRCm39)	R786H	probably benign	Het
Ccr1l1	A	G	9: 123,777,589 (GRCm39)	I286T	possibly damaging	Het
Ccr9	T	A	9: 123,608,732 (GRCm39)	M138K	probably benign	Het
Dbh	T	C	2: 27,055,798 (GRCm39)	F91L	probably benign	Het
Dip2a	T	A	10: 76,110,115 (GRCm39)		probably null	Het
Eif3j1	A	G	2: 121,880,991 (GRCm39)	I148V	probably damaging	Het
Etl4	A	G	2: 20,534,892 (GRCm39)	R116G	probably damaging	Het
Exoc6	C	A	19: 37,597,440 (GRCm39)	Q614K	possibly damaging	Het
Gabpb1	A	G	2: 126,494,194 (GRCm39)	S144P	possibly damaging	Het
Galnt13	G	A	2: 54,950,488 (GRCm39)	V390M	possibly damaging	Het
Gimap5	T	C	6: 48,729,501 (GRCm39)	S24P	probably benign	Het
Gm4924	T	A	10: 82,213,701 (GRCm39)		probably benign	Het
Gucy1a2	T	A	9: 3,865,365 (GRCm39)	I613K	probably damaging	Het
Hsp90ab1	T	A	17: 45,880,726 (GRCm39)	E115D	probably benign	Het
Hspg2	T	C	4: 137,266,759 (GRCm39)	V1949A	probably damaging	Het
Ice2	A	G	9: 69,318,698 (GRCm39)	Y294C	probably damaging	Het
Il17ra	T	G	6: 120,451,298 (GRCm39)	Y157*	probably null	Het
Ipo13	T	C	4: 117,762,126 (GRCm39)	E416G	probably damaging	Het
Large1	C	T	8: 73,564,120 (GRCm39)	V549M	probably damaging	Het
Mmp17	A	G	5: 129,679,271 (GRCm39)	D390G	probably damaging	Het
Mrps10	T	G	17: 47,683,371 (GRCm39)	I102R	probably damaging	Het
Mycbp2	A	G	14: 103,450,155 (GRCm39)	L1712P	probably damaging	Het
Nipal2	A	G	15: 34,584,815 (GRCm39)	M251T	probably damaging	Het
Nup160	G	A	2: 90,548,440 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,571 (GRCm39)	V153D	probably benign	Het
Or6f2	T	C	7: 139,756,255 (GRCm39)	I74T	probably damaging	Het
Pdcd11	G	A	19: 47,081,337 (GRCm39)	D34N	possibly damaging	Het
Pigb	G	T	9: 72,924,809 (GRCm39)	P450Q	probably damaging	Het
Radil	A	C	5: 142,474,256 (GRCm39)	L730R	probably damaging	Het
Rsbn1	G	T	3: 103,821,538 (GRCm39)		probably benign	Het
Sec24b	T	C	3: 129,805,467 (GRCm39)	D264G	probably damaging	Het
Shank3	C	G	15: 89,431,973 (GRCm39)	S906C	probably damaging	Het
Slc1a3	A	G	15: 8,672,459 (GRCm39)	V340A	possibly damaging	Het
Slc1a3	A	T	15: 8,680,423 (GRCm39)	I145N	possibly damaging	Het
Slc35f4	A	T	14: 49,541,681 (GRCm39)	S208T	possibly damaging	Het
Spopfm1	A	G	3: 94,173,862 (GRCm39)	N290S	probably benign	Het
Tmem132b	A	G	5: 125,715,380 (GRCm39)	D363G	probably benign	Het
Tox3	T	G	8: 91,001,309 (GRCm39)	N34T	probably damaging	Het
Vmn1r231	T	A	17: 21,110,001 (GRCm39)	I305L	probably benign	Het
Vps18	A	G	2: 119,120,711 (GRCm39)	I57V	possibly damaging	Het
Zfhx4	T	G	3: 5,464,603 (GRCm39)	L1587R	probably damaging	Het
Zfp112	A	G	7: 23,825,322 (GRCm39)	N430S	probably benign	Het

Other mutations in 2310022A10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:2310022A10Rik	APN	7	27,263,982 (GRCm39)	missense	probably benign	0.05
IGL03261:2310022A10Rik	APN	7	27,279,863 (GRCm39)	nonsense	probably null
R0305:2310022A10Rik	UTSW	7	27,274,061 (GRCm39)	missense	probably damaging	1.00
R1080:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R1696:2310022A10Rik	UTSW	7	27,260,022 (GRCm39)	missense	possibly damaging	0.94
R1773:2310022A10Rik	UTSW	7	27,280,020 (GRCm39)	missense	probably damaging	0.98
R4171:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R4583:2310022A10Rik	UTSW	7	27,274,017 (GRCm39)	missense	unknown
R4781:2310022A10Rik	UTSW	7	27,271,076 (GRCm39)	missense	probably damaging	1.00
R4806:2310022A10Rik	UTSW	7	27,265,070 (GRCm39)	critical splice acceptor site	probably null
R4998:2310022A10Rik	UTSW	7	27,271,088 (GRCm39)	missense	probably damaging	1.00
R5000:2310022A10Rik	UTSW	7	27,255,946 (GRCm39)	missense	probably benign	0.04
R5007:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5008:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5364:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R6119:2310022A10Rik	UTSW	7	27,265,138 (GRCm39)	nonsense	probably null
R6991:2310022A10Rik	UTSW	7	27,279,871 (GRCm39)	missense	probably damaging	1.00
R7014:2310022A10Rik	UTSW	7	27,278,198 (GRCm39)	nonsense	probably null
R7519:2310022A10Rik	UTSW	7	27,274,155 (GRCm39)	missense
R7787:2310022A10Rik	UTSW	7	27,263,926 (GRCm39)	missense	probably damaging	1.00
R8244:2310022A10Rik	UTSW	7	27,271,004 (GRCm39)	missense	probably damaging	1.00
R9246:2310022A10Rik	UTSW	7	27,279,961 (GRCm39)	missense	probably benign	0.06
R9500:2310022A10Rik	UTSW	7	27,265,091 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TACTTCACAGCAGTGCCTC -3'
(R):5'- AAGTACCAAGTAGCCGCCAG -3'

Sequencing Primer
(F):5'- AACCTGAGTTCAAGTCCTGG -3'
(R):5'- GCCAGGCCAGAGCATCAC -3'

Posted On

2021-01-18